• Gene id: 694

Gene Summary

• Gene Symbol: BTG1   Gene   UCSC   Ensembl
• Aliases: APRO2
• Gene name: BTG anti-proliferation factor 1
• Alternate names: protein BTG1, B-cell translocation gene 1 protein, B-cell translocation gene 1, anti-proliferative,
• Gene location: 12q21.33 (92145845: 92140277)     Exons: 2     NC_000012.12
• Gene summary(Entrez): This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein int
• OMIM: 109580

SNPs

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

Protein Summary

• Protein general information: P62324  
  • Name: Protein BTG1 (B cell translocation gene 1 protein)
  • Length: 171  
  • Mass: 19209
• Sequence:

  MHPFYTRAATMIGEIAAAVSFISKFLRTKGLTSERQLQTFSQSLQELLAEHYKHHWFPEKPCKGSGYRCIRINHK
  MDPLIGQAAQRIGLSSQELFRLLPSELTLWVDPYEVSYRIGEDGSICVLYEASPAGGSTQNSTNVQMVDSRISCK
  EELLLGRTSPSKNYNMMTVSG

• Structural information:
  • Interpro: IPR002087  IPR036054  IPR033330  
  • Prosite: PS00960 PS01203
  • STRING: ENSP00000256015
• Other Databases: GeneCards:  BTG1  Malacards:  BTG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008285	negative regulation of cell population proliferation	IBA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0045663	positive regulation of myoblast differentiation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:2000271	positive regulation of fibroblast apoptotic process	IMP	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0005634	nucleus	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003712	transcription coregulator activity	NAS	molecular function
GO:0045603	positive regulation of endothelial cell differentiation	IMP	biological process
GO:0016477	cell migration	NAS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0045663	positive regulation of myoblast differentiation	NAS	biological process
GO:0019900	kinase binding	NAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030308	negative regulation of cell growth	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03018	RNA degradation

Diseases

Associated diseases	References
acute myeloid leukemia	PMID:15449376
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881